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HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
TARDBP (TAR DNA Binding Protein) is a Protein Coding gene. Diseases associated with TARDBP include Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia and Motor Neuron Disease. Among its related pathways are Neuroscience. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA-binding transcription factor activity. An important paralog of this gene is PABPC4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003690 | double-stranded DNA binding | IDA | 7745706 |
GO:0003700 | DNA-binding transcription factor activity | TAS | 7745706 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 11285240 |
GO:0005654 | nucleoplasm | IBA,IDA | -- |
GO:0005726 | perichromatin fibrils | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0010494 | cytoplasmic stress granule | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001933 | negative regulation of protein phosphorylation | IMP | 18305152 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | TAS | 7745706 |
GO:0006397 | mRNA processing | IEA | -- |
GO:0008380 | RNA splicing | IDA | 11285240 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TARDBP 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TARDBP 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TARDBP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tardbp 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TARDBP 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TARDBP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TARDBP 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tardbp 30 |
|
||
MGC75857 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | tardbp-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tardbpl 31 |
|
OneToMany | |
tardbp 30 31 |
|
OneToMany | |||
wufb77f02 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3538 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7804 31 32 |
|
OneToMany | |
TBPH 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | F44G4.4 32 |
|
|
|
tdp-1 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10473 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3080 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641575 | Uncertain Significance: Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia | 11,022,515(+) | C/CTGGAAATAACTCT | INFRAME_INSERTION | |
704022 | Benign: not provided | 11,013,751(+) | C/T | SYNONYMOUS_VARIANT | |
741536 | Likely Benign: not provided | 11,018,801(+) | A/G | SYNONYMOUS_VARIANT | |
801435 | Likely Pathogenic: Frontotemporal dementia | 11,022,538(+) | T/C | MISSENSE_VARIANT | |
805651 | Benign: not provided | 11,022,384(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
amyotrophic lateral sclerosis 10 with or without frontotemporal dementia |
|
|
motor neuron disease |
|
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
|
|
amyotrophic lateral sclerosis 1 |
|
|
frontotemporal dementia |
|